GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 6076 - 6100 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:854
  • collagen disease
  • Aliases:
    • collagen disorder
Caenorhabditis elegans
DOID:0060263
  • porencephaly
Caenorhabditis elegans
DOID:0111547
  • retinal arterial tortuosity
  • Aliases:
    • RATOR
    • retinal arteriolar tortuosity
    • retinal hemorrhage with vascular tortuosity
    • tortuosity of retinal arteries
Caenorhabditis elegans
DOID:0110034
  • X-linked Alport syndrome
  • Aliases:
    • nephropathy and deafness, X-linked
Caenorhabditis elegans
DOID:0090125
  • brain small vessel disease 1
  • Aliases:
    • BSVD1
    • COL4A1-related brain small vessel disease with hemorrhage
    • COL4A1-related familial vascular leukoencephalopathy
    • COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
    • autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy
    • brain small vessel disease with Axenfeld-Riegar anomaly
    • brain small vessel disease with hemorrhage
    • brain small vessel disease with or without ocular anomalies
    • infantile hemiparesis
    • leukoencephalopathy with Axenfeld-Riegar anomaly
Caenorhabditis elegans
DOID:13603
  • obstructive jaundice
  • Aliases:
    • Cholestatic Jaundice
    • Cholestatic jaundice syndrome
    • Obstructive hyperbilirubinemia
Caenorhabditis elegans
DOID:12704
  • ataxia telangiectasia
  • Aliases:
    • Boder-Sedgwick syndrome
    • Louis Bar syndrome
Caenorhabditis elegans
DOID:8670
  • eating disorder
Caenorhabditis elegans
DOID:0050456
  • Buruli ulcer disease
  • Aliases:
    • Bairnsdale ulcer
    • Daintree ulcer
    • Mossman ulcer
    • Searl ulcer
    • Searle's ulcer
Mus musculus (house mouse)
DOID:11759
  • hypochromic anemia
  • Aliases:
    • ANEMIA HYPOCHROMIC
Mus musculus (house mouse)
DOID:0111332
  • Pitt-Hopkins-like syndrome 2
  • Aliases:
    • PTHSL2
Mus musculus (house mouse)
DOID:0070377
  • developmental and epileptic encephalopathy 96
  • Aliases:
    • DEE96
Mus musculus (house mouse)
DOID:0110670
  • congenital myasthenic syndrome 9
  • Aliases:
    • CMS9
    • congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
Mus musculus (house mouse)
DOID:0111377
  • fetal akinesia deformation sequence syndrome 1
  • Aliases:
    • FADS1
Mus musculus (house mouse)
DOID:9245
  • Alagille syndrome
  • Aliases:
    • Alagille-Watson syndrome
    • Arteriohepatic dysplasia
Homo sapiens (human)
DOID:0110106
  • atrial heart septal defect 1
  • Aliases:
    • ASD1
    • atrial septal defect 1
Mus musculus (house mouse)
DOID:0080411
  • familial adenomatous polyposis 3
Mus musculus (house mouse)
DOID:0070146
  • hereditary sensory neuropathy type 4
  • Aliases:
    • hereditary sensory neuropathy type IV
    • insensitivity to pain, congenital, with anhidrosis
Mus musculus (house mouse)
DOID:0080285
  • developmental and epileptic encephalopathy 58
  • Aliases:
    • DEE58
    • early infantile epileptic encephalopathy 58
Mus musculus (house mouse)
DOID:5627
  • adenosquamous gallbladder carcinoma
  • Aliases:
    • Adenosquamous carcinoma of the gallbladder
Mus musculus (house mouse)
DOID:0112196
  • spondylometaepiphyseal dysplasia, short limb-hand type
  • Aliases:
    • SMED short limb-abnormal calcification type
    • SMED short limb-hand type
    • SMED type 2
    • SMED, type II
    • SMED-SL
    • SMED-SL/AC
    • spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
    • spondylometaepiphyseal dysplasia short limb-hand type
Mus musculus (house mouse)
DOID:0060162
  • dentatorubral-pallidoluysian atrophy
  • Aliases:
    • DRPLA
    • Haw River Syndrome
    • Naito-Oyanagi disease
Homo sapiens (human)
DOID:2033
  • communication disorder
Caenorhabditis elegans
DOID:0050558
  • Ullrich congenital muscular dystrophy
  • Aliases:
    • ULLRICH DISEASE
    • Ullrich scleroatonic muscular dystrophy
Caenorhabditis elegans
DOID:0050663
  • Bethlem myopathy
  • Aliases:
    • benign congenital muscular dystrophy
Caenorhabditis elegans

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024